Single-cell analysis of mitochondrial DNA in patients and a carrier of the tRNALeu(UUR) gene mutation
Saitoh, S. ; Momoi, M. Y. ; Yamagata, T. ; Nakauchi, H. ; Nihei, K. ; Fujii, M.
Springer
Published 1999
Springer
Published 1999
ISSN: |
1573-2665
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Source: |
Springer Online Journal Archives 1860-2000
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Topics: |
Medicine
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Notes: |
Abstract We examined heteroplasmy of mutated mitochondrial DNA in single peripheral lymphocytes derived from 4 individuals carrying the nt 3243 A-to-G mutation, including two patients with MELAS, a patient with cardiomyopathy, deafness and diabetes mellitus, and the asymptomatic mother of one of the MELAS patients. In these subjects, all lymphocytes examined were heteroplasmic to different degrees, with a wider range of heteroplasmy evident in the symptomatic patients than in the healthy carrier.
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Type of Medium: |
Electronic Resource
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URL: |